Contribution of genome-wide association studies to scientific research: a pragmatic approach to evaluate their impact.

ABSTRACT: The factual value of genome-wide association studies (GWAS) for the understanding of multifactorial diseases is a matter of intense debate. Practical consequences for the development of more effective therapies do not seem to be around the corner. Here we propose a pragmatic and objective evaluation of how much new biology is arising from these studies, with particular attention to the information that can help prioritize therapeutic targets. We chose multiple sclerosis (MS) as a paradigm disease and assumed that, in pre-GWAS candidate-gene studies, the knowledge behind the choice of each gene reflected the understanding of the disease prior to the advent of GWAS. Importantly, this knowledge was based mainly on non-genetic, phenotypic grounds. We performed single-gene and pathway-oriented

SUBMITTER: Ricigliano VA 

PROVIDER: S-EPMC3743868 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature